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Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
Barbitoff YA, Skitchenko RK, Poleshchuk OI, Shikov AE, Serebryakova EA, Nasykhova YA, Polev DE, Shuvalova AR, Shcherbakova IV, Fedyakov MA, Glotov OS, Glotov AS, Predeus AV. Barbitoff YA, et al. Among authors: fedyakov ma. Mol Genet Genomic Med. 2019 Nov;7(11):e964. doi: 10.1002/mgg3.964. Epub 2019 Sep 3. Mol Genet Genomic Med. 2019. PMID: 31482689 Free PMC article.
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Glotov OS, Serebryakova EA, Turkunova ME, Efimova OA, Glotov AS, Barbitoff YA, Nasykhova YA, Predeus AV, Polev DE, Fedyakov MA, Polyakova IV, Ivashchenko TE, Shved NY, Shabanova ES, Tiselko AV, Romanova OV, Sarana AM, Pendina AA, Scherbak SG, Musina EV, Petrovskaia-Kaminskaia AV, Lonishin LR, Ditkovskaya LV, Zhelenina LА, Tyrtova LV, Berseneva OS, Skitchenko RK, Suspitsin EN, Bashnina EB, Baranov VS. Glotov OS, et al. Among authors: fedyakov ma. Mol Med Rep. 2019 Dec;20(6):4905-4914. doi: 10.3892/mmr.2019.10751. Epub 2019 Oct 16. Mol Med Rep. 2019. PMID: 31638168 Free PMC article.
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
Balashova MS, Tuluzanovskaya IG, Glotov OS, Glotov AS, Barbitoff YA, Fedyakov MA, Alaverdian DA, Ivashchenko TE, Romanova OV, Sarana AM, Scherbak SG, Baranov VS, Filimonov MI, Skalny AV, Zhuchenko NA, Ignatova TM, Asanov AY. Balashova MS, et al. Among authors: fedyakov ma. J Trace Elem Med Biol. 2020 May;59:126420. doi: 10.1016/j.jtemb.2019.126420. Epub 2019 Oct 25. J Trace Elem Med Biol. 2020. PMID: 31708252
Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome.
Shikov AE, Barbitoff YA, Glotov AS, Danilova MM, Tonyan ZN, Nasykhova YA, Mikhailova AA, Bespalova ON, Kalinin RS, Mirzorustamova AM, Kogan IY, Baranov VS, Chernov AN, Pavlovich DM, Azarenko SV, Fedyakov MA, Tsay VV, Eismont YA, Romanova OV, Hobotnikov DN, Vologzhanin DA, Mosenko SV, Ponomareva TA, Talts YA, Anisenkova AU, Lisovets DG, Sarana AM, Urazov SP, Scherbak SG, Glotov OS. Shikov AE, et al. Among authors: fedyakov ma. Front Genet. 2020 Sep 29;11:551220. doi: 10.3389/fgene.2020.551220. eCollection 2020. Front Genet. 2020. PMID: 33133145 Free PMC article.
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV, Romanova OV, Ivanova ON, Fedyakov MA, Panteleeva AA, Barbitoff YA, Muzalevskaya MV, Urazgildeeva SA, Gurevich VS, Urazov SP, Scherbak SG, Sarana AM, Semenova NA, Anisimova IV, Guseva DM, Pchelina SN, Glotov AS, Zakharova EY, Glotov OS. Miroshnikova VV, et al. Among authors: fedyakov ma. Biomed Rep. 2021 Jan;14(1):15. doi: 10.3892/br.2020.1391. Epub 2020 Nov 17. Biomed Rep. 2021. PMID: 33269076 Free PMC article.
X-linked and autosomal dominant forms of the ichthyosis in coinheritance.
Alaverdian DA, Fedyakov M, Polennikova E, Ivashchenko T, Shcherbak S, Urasov S, Tsay V, Glotov OS. Alaverdian DA, et al. Drug Metab Pers Ther. 2019 Dec 18;34(4):/j/dmdi.2019.34.issue-4/dmpt-2019-0008/dmpt-2019-0008.xml. doi: 10.1515/dmpt-2019-0008. Drug Metab Pers Ther. 2019. PMID: 31967959
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS, Savostyanov KV, Nagornova TS, Chernov AN, Fedyakov MA, Raspopova AN, Krasnoukhov KN, Danilov LG, Moiseeva NV, Kalinin RS, Tsai VV, Eismont YA, Voinova VY, Vitebskaya AV, Gurkina EY, Kuzenkova LM, Sosnina IB, Pushkov AA, Zhanin IS, Zakharova EY. Glotov OS, et al. Among authors: fedyakov ma. Int J Mol Sci. 2022 Oct 26;23(21):12976. doi: 10.3390/ijms232112976. Int J Mol Sci. 2022. PMID: 36361766 Free PMC article.